Incidental Mutation 'R8027:Fbxl8'
| ID |
617772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxl8
|
| Ensembl Gene |
ENSMUSG00000033313 |
| Gene Name |
F-box and leucine-rich repeat protein 8 |
| Synonyms |
FBL8 |
| MMRRC Submission |
067466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105991280-105995958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 105994758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 90
(T90I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034359]
[ENSMUST00000036127]
[ENSMUST00000036221]
[ENSMUST00000126923]
[ENSMUST00000144762]
[ENSMUST00000163734]
[ENSMUST00000172525]
[ENSMUST00000173102]
[ENSMUST00000173640]
[ENSMUST00000173859]
[ENSMUST00000174837]
|
| AlphaFold |
Q8CIG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034359
|
| SMART Domains |
Protein: ENSMUSP00000034359
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRADD_N
|
51 |
161 |
2.9e-49 |
PFAM |
|
DEATH
|
203 |
303 |
1.14e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036127
|
| SMART Domains |
Protein: ENSMUSP00000048904
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
383 |
8e-88 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036221
AA Change: T90I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000038638
Gene: ENSMUSG00000033313
AA Change: T90I
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
2.72e-6 |
SMART |
|
low complexity region
|
102 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126923
|
| SMART Domains |
Protein: ENSMUSP00000115366
Gene: ENSMUSG00000033313
| Domain | Start | End | E-Value | Type |
|---|
|
FBOX
|
8 |
48 |
2.72e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144762
|
| SMART Domains |
Protein: ENSMUSP00000119174
Gene: ENSMUSG00000031887
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1F2H|A
|
1 |
50 |
7e-23 |
PDB |
|
SCOP:d1f3va_
|
8 |
50 |
4e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163734
|
| SMART Domains |
Protein: ENSMUSP00000126278
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
9 |
60 |
1.43e-1 |
SMART |
|
Blast:HSF
|
99 |
323 |
2e-88 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172525
|
| SMART Domains |
Protein: ENSMUSP00000134206
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
243 |
3e-36 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173102
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173640
|
| SMART Domains |
Protein: ENSMUSP00000133532
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
284 |
1e-50 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173859
|
| SMART Domains |
Protein: ENSMUSP00000134213
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
353 |
1e-46 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174837
|
| SMART Domains |
Protein: ENSMUSP00000134477
Gene: ENSMUSG00000033249
| Domain | Start | End | E-Value | Type |
|---|
|
HSF
|
16 |
120 |
1.74e-62 |
SMART |
|
Blast:HSF
|
159 |
290 |
3e-50 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class. It shares 78% sequence identity with the mouse protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
T |
3: 40,888,158 (GRCm39) |
T334I |
probably benign |
Het |
| Adam5 |
T |
C |
8: 25,272,574 (GRCm39) |
N527S |
probably damaging |
Het |
| Aldh5a1 |
A |
T |
13: 25,110,093 (GRCm39) |
Y147* |
probably null |
Het |
| Astn2 |
A |
C |
4: 65,459,208 (GRCm39) |
V1121G |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,747,809 (GRCm39) |
Y364N |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,906,962 (GRCm39) |
L685H |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,024,046 (GRCm39) |
L248P |
possibly damaging |
Het |
| Calcoco2 |
A |
T |
11: 95,991,241 (GRCm39) |
|
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,543,215 (GRCm39) |
L241P |
probably damaging |
Het |
| Fam107a |
A |
T |
14: 8,298,813 (GRCm38) |
|
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,125 (GRCm39) |
K101M |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,523,583 (GRCm39) |
T240I |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,790,983 (GRCm39) |
V998A |
probably benign |
Het |
| Fut1 |
G |
A |
7: 45,268,289 (GRCm39) |
G81E |
probably damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,331 (GRCm39) |
V285A |
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,722 (GRCm39) |
T116A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,279,727 (GRCm39) |
E145G |
probably benign |
Het |
| Grik1 |
T |
G |
16: 87,732,893 (GRCm39) |
T660P |
|
Het |
| Gzmk |
T |
A |
13: 113,308,434 (GRCm39) |
K256* |
probably null |
Het |
| Hsp90b1 |
A |
G |
10: 86,532,594 (GRCm39) |
S361P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,292,397 (GRCm39) |
S645P |
probably damaging |
Het |
| Izumo1 |
T |
C |
7: 45,275,678 (GRCm39) |
V329A |
probably benign |
Het |
| Leng8 |
CT |
C |
7: 4,145,855 (GRCm39) |
|
probably null |
Het |
| Lrba |
T |
A |
3: 86,325,219 (GRCm39) |
D1892E |
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,329,976 (GRCm39) |
S101P |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,181,164 (GRCm39) |
D145G |
possibly damaging |
Het |
| Nudt9 |
T |
A |
5: 104,212,793 (GRCm39) |
|
probably benign |
Het |
| Or55b10 |
T |
A |
7: 102,143,629 (GRCm39) |
I118F |
probably damaging |
Het |
| Pcdhb9 |
T |
C |
18: 37,536,069 (GRCm39) |
S688P |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,081,150 (GRCm39) |
M17T |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,565 (GRCm39) |
V189M |
possibly damaging |
Het |
| Ptprm |
T |
C |
17: 67,251,200 (GRCm39) |
Y559C |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,015,694 (GRCm39) |
Q290R |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,462,856 (GRCm39) |
Y1060C |
probably damaging |
Het |
| Sh3pxd2b |
C |
T |
11: 32,372,210 (GRCm39) |
T459M |
probably benign |
Het |
| Skint4 |
G |
T |
4: 112,015,182 (GRCm39) |
|
probably null |
Het |
| Skint8 |
T |
A |
4: 111,785,936 (GRCm39) |
D127E |
probably benign |
Het |
| Slc13a2 |
T |
A |
11: 78,295,582 (GRCm39) |
M95L |
probably benign |
Het |
| Slc5a2 |
A |
G |
7: 127,869,718 (GRCm39) |
M384V |
probably damaging |
Het |
| Timd5 |
T |
C |
11: 46,428,744 (GRCm39) |
I222T |
probably benign |
Het |
| Tmem198 |
A |
T |
1: 75,456,706 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,727,060 (GRCm39) |
I5835T |
unknown |
Het |
| Tulp3 |
T |
C |
6: 128,311,436 (GRCm39) |
D73G |
probably benign |
Het |
| Ube2e2 |
A |
C |
14: 18,574,317 (GRCm38) |
W195G |
possibly damaging |
Het |
| Utp25 |
A |
G |
1: 192,800,530 (GRCm39) |
V430A |
probably benign |
Het |
| Wwp2 |
C |
A |
8: 108,282,109 (GRCm39) |
H768N |
probably damaging |
Het |
|
| Other mutations in Fbxl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02794:Fbxl8
|
APN |
8 |
105,994,752 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03405:Fbxl8
|
APN |
8 |
105,994,752 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0993:Fbxl8
|
UTSW |
8 |
105,993,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Fbxl8
|
UTSW |
8 |
105,995,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Fbxl8
|
UTSW |
8 |
105,994,856 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3848:Fbxl8
|
UTSW |
8 |
105,993,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3850:Fbxl8
|
UTSW |
8 |
105,993,781 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4957:Fbxl8
|
UTSW |
8 |
105,994,827 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5153:Fbxl8
|
UTSW |
8 |
105,993,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5161:Fbxl8
|
UTSW |
8 |
105,995,538 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6597:Fbxl8
|
UTSW |
8 |
105,995,523 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6603:Fbxl8
|
UTSW |
8 |
105,994,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6962:Fbxl8
|
UTSW |
8 |
105,995,338 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7044:Fbxl8
|
UTSW |
8 |
105,993,647 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R7566:Fbxl8
|
UTSW |
8 |
105,994,938 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTTCTTTCCTAGTTCATGGTGAC -3'
(R):5'- CCAGTAGTTTGAGCACAGAAGTGG -3'
Sequencing Primer
(F):5'- GGTGACACCGCTAATTTCTTTCTATG -3'
(R):5'- TTAAGCACCAGAGTGTCGTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation